KEGG T01001: 2617

Homo sapiens (human): 2617

Entry

2617              CDS       T01001

Symbol

GARS1, CMT2D, DSMAV, GARS, GlyRS, HMN5, HMN5A, HMND5, SMAD1, SMAJI

Name

(RefSeq) glycyl-tRNA synthetase 1

K01880

glycyl-tRNA synthetase [EC:6.1.1.14]

Organism

hsa Homo sapiens (human)

Pathway

hsa00970

Aminoacyl-tRNA biosynthesis

Disease

H00264

Charcot-Marie-Tooth disease

H00455

Spinal muscular atrophy

H00856

Distal hereditary motor neuropathies

Brite

KEGG Orthology (KO) [BR:hsa00001]
09120 Genetic Information Processing
  09122 Translation
   00970 Aminoacyl-tRNA biosynthesis
    2617 (GARS1)
09180 Brite Hierarchies
  09181 Protein families: metabolism
   01007 Amino acid related enzymes [BR:hsa01007]
    2617 (GARS1)
  09182 Protein families: genetic information processing
   03016 Transfer RNA biogenesis [BR:hsa03016]
    2617 (GARS1)
   03029 Mitochondrial biogenesis [BR:hsa03029]
    2617 (GARS1)
Enzymes [BR:hsa01000]
6. Ligases
  6.1  Forming carbon-oxygen bonds
   6.1.1  Ligases forming aminoacyl-tRNA and related compounds
    6.1.1.14  glycine---tRNA ligase
     2617 (GARS1)
Amino acid related enzymes [BR:hsa01007]
Aminoacyl-tRNA synthetase
  Class II (C/G)
   2617 (GARS1)
Transfer RNA biogenesis [BR:hsa03016]
Eukaryotic type
  Aminoacyl-tRNA synthetases (AARSs)
   Other AARSs
    2617 (GARS1)
Mitochondrial biogenesis [BR:hsa03029]
Mitochondrial DNA transcription, translation, and replication factors
  Mitochondrial transcription and translation factors
   Other mitochondrial DNA transcription and translation factors
    2617 (GARS1)

SSDB

Motif

Pfam:

HGTP_anticodon WHEP-TRS tRNA-synt_2b

Other DBs

NCBI-GeneID:

NCBI-ProteinID:

OMIM:

HGNC:

Ensembl:

UniProt:

Structure

LinkDB

Position

7:30594735..30634033

AA seq 739 aa
MPSPRPVLLRGARAALLLLLPPRLLARPSLLLRRSLSAASCPPISLPAAASRSSMDGAGA
EEVLAPLRLAVRQQGDLVRKLKEDKAPQVDVDKAVAELKARKRVLEAKELALQPKDDIVD
RAKMEDTLKRRFFYDQAFAIYGGVSGLYDFGPVGCALKNNIIQTWRQHFIQEEQILEIDC
TMLTPEPVLKTSGHVDKFADFMVKDVKNGECFRADHLLKAHLQKLMSDKKCSVEKKSEME
SVLAQLDNYGQQELADLFVNYNVKSPITGNDLSPPVSFNLMFKTFIGPGGNMPGYLRPET
AQGIFLNFKRLLEFNQGKLPFAAAQIGNSFRNEISPRSGLIRVREFTMAEIEHFVDPSEK
DHPKFQNVADLHLYLYSAKAQVSGQSARKMRLGDAVEQGVINNTVLGYFIGRIYLYLTKV
GISPDKLRFRQHMENEMAHYACDCWDAESKTSYGWIEIVGCADRSCYDLSCHARATKVPL
VAEKPLKEPKTVNVVQFEPSKGAIGKAYKKDAKLVMEYLAICDECYITEMEMLLNEKGEF
TIETEGKTFQLTKDMINVKRFQKTLYVEEVVPNVIEPSFGLGRIMYTVFEHTFHVREGDE
QRTFFSFPAVVAPFKCSVLPLSQNQEFMPFVKELSEALTRHGVSHKVDDSSGSIGRRYAR
TDEIGVAFGVTIDFDTVNKTPHTATLRDRDSMRQIRAEISELPSIVQDLANGNITWADVE
ARYPLFEGQETGKKETIEE

NT seq 2220 nt +upstreamnt +downstreamnt
atgccctctccgcgtccagtgctgcttagaggtgctcgcgccgctctgctgctgctgctg
ccgccccggctcttagcccgaccctcgctcctgctccgccggtccctcagcgcggcctcc
tgccccccgatctccttgcccgccgccgcctcccggagcagcatggacggcgcgggggct
gaggaggtgctggcacctctgaggctagcagtgcgccagcagggagatcttgtgcgaaaa
ctcaaagaagataaagcaccccaagtagacgtagacaaagcagtggctgagctcaaagcc
cgcaagagggttctggaagcaaaggagctggcgttacagcccaaagatgatattgtagac
cgagcaaaaatggaagataccctgaagaggaggtttttctatgatcaagcttttgctatt
tatggaggtgttagtggtctgtatgactttgggccagttggctgtgctttgaagaacaat
attattcagacctggaggcagcactttatccaagaggaacagatcctggagatcgattgc
accatgctcacccctgagccagttttaaagacctctggccatgtagacaaatttgctgac
ttcatggtgaaagacgtaaaaaatggagaatgttttcgtgctgaccatctattaaaagct
catttacagaaattgatgtctgataagaagtgttctgtcgaaaagaaatcagaaatggaa
agtgttttggcccagcttgataactatggacagcaagaacttgcggatctttttgtgaac
tataatgtaaaatctcccattactggaaatgatctatcccctccagtgtcttttaactta
atgttcaagactttcattgggcctggaggaaacatgcctgggtacttgagaccagaaact
gcacaggggattttcttgaatttcaaacgacttttggagttcaaccaaggaaagttgcct
tttgctgctgcccagattggaaattcttttagaaatgagatctcccctcgatctggactg
atcagagtcagagaattcacaatggcagaaattgagcactttgtagatcccagtgagaaa
gaccaccccaagttccagaatgtggcagaccttcacctttatttgtattcagcaaaagcc
caggtcagcggacagtccgctcggaaaatgcgcctgggagatgctgttgaacagggtgtg
attaataacacagtattaggctatttcattggccgcatctacctctacctcacgaaggtt
ggaatatctccagataaactccgcttccggcagcacatggagaatgagatggcccattat
gcctgtgactgttgggatgcagaatccaaaacatcctacggttggattgagattgttgga
tgtgctgatcgttcctgttatgacctctcctgtcatgcacgagccaccaaagtcccactt
gtagctgagaaacctctgaaagaacccaaaacagtcaatgttgttcagtttgaacccagt
aagggagcaattggtaaggcatataagaaggatgcaaaactggtgatggagtatcttgcc
atttgtgatgagtgctacattacagaaatggagatgctgctgaatgagaaaggggaattc
acaattgaaactgaagggaaaacatttcagttaacaaaagacatgatcaatgtgaagaga
ttccagaaaacactatatgtggaagaagttgttccgaatgtaattgaaccttccttcggc
ctgggtaggatcatgtatacggtatttgaacatacattccatgtacgagaaggagatgaa
cagagaacattcttcagtttccctgctgtagttgctccattcaaatgttccgtcctccca
ctgagccaaaaccaggagttcatgccatttgtcaaggaattatcggaagccctgaccagg
catggagtatctcacaaagtagacgattcctctgggtcaatcggaaggcgctatgccagg
actgatgagattggcgtggcttttggtgtcaccattgactttgacacagtgaacaagacc
ccccacactgcaactctgagggaccgtgactcaatgcggcagataagagcagagatctct
gagctgcccagcatagtccaagacctagccaatggcaacatcacatgggctgatgtggag
gccaggtatcctctgtttgaagggcaagagactggtaaaaaagagacaatcgaggaatga

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